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P439 COL4A3

SALSA MLPA Probemix P439 COL4A3 detects copy number variations in the COL4A3 gene.

Specifications

Contents: 41 MLPA probes, including 32 probes for COL4A3.

Tissue: human genomic DNA.

Application: research on Alport syndrome.

For research use only (RUO). Not for use in diagnostics.

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List Prices Documentation

Key related products

P191 X-linked Alport syndrome mix 1

Contains probes for the COL4A5 gene involved in XLAS.

P192 X-linked Alport syndrome mix 2

Contains probes for the COL4A5 gene involved in XLAS.

P444 COL4A4

Contains probes for the COL4A4 gene involved in ARAS and ADAS.

View all

General information

The SALSA MLPA Probemix P439 COL4A3 is a research use only (RUO) assay for the detection of deletions or duplications in the COL4A3 gene, which is associated with Alport syndrome.

Alport syndrome (AS) is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies. It is a genetically heterogeneous disorder, with all forms resulting from mutations in the genes encoding the alpha-3 (COL4A3; 2q36.3), alpha-4 (COL4A4; 2q36.3), and alpha-5 (COL4A5; Xq22.3) chains of type IV collagen, which is a major structural component of the basement membrane (Nozu et al. 2019). AS can be divided into X-Linked AS (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by mutations in the COL4A5 gene and accounts for approximately 80 % of AS, whereas ARAS and ADAS are caused by mutations in the COL4A3 and COL4A4 genes and account for approximately 15 % and 5 % of AS, respectively (Nozu et al. 2019).

Although point mutations in COL4A3 may be a more common cause of disease, intragenic deletions of COL4A3 have been reported (Morinière et al. 2014).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1207/.

Regulatory status

SALSA MLPA Probemix P439 COL4A3 is for research use only (RUO) in all territories.

Product documentation

Version C2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P439-025R
SALSA MLPA Probemix P439 COL4A3 – 25 rxn
MLPA
€ 296.00
P439-050R
SALSA MLPA Probemix P439 COL4A3 – 50 rxn
MLPA
€ 580.00
P439-100R
SALSA MLPA Probemix P439 COL4A3 – 100 rxn
MLPA
€ 1135.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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